Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

RASA1: variable phenotype with capillary and arteriovenous malformations.

Laurence M Boon1, John B Mulliken, Miikka Vikkula

  • 1Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium.

Current Opinion in Genetics & Development
|May 27, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysis.

Orphanet journal of rare diseases·2026
Same author

A Novel KDR Mutation in an Infant With a Non-Involuting Congenital Hemangioma.

Pediatric dermatology·2026
Same author

Current and emerging pharmacotherapies for treating vascular malformations.

Expert review of clinical pharmacology·2026
Same author

The VASCERN-VASCA diagnostic and management pathways for kaposiform hemangioendothelioma.

European journal of pediatrics·2025
Same author

Personalized sirolimus regimen for vascular malformations: a retrospective analysis of VASE cohort.

Orphanet journal of rare diseases·2025
Same author

Peripheral arteriovenous malformations: Diagnosis and future prospects.

Presse medicale (Paris, France : 1983)·2025

Capillary malformation-arteriovenous malformation (CM-AVM) is a hereditary disorder linked to RASA1 gene mutations. These mutations disrupt vascular development, leading to abnormal blood vessel formation and potential treatment targets.

Area of Science:

  • Genetics
  • Vascular Biology
  • Dermatology

Background:

  • Capillary malformation-arteriovenous malformation (CM-AVM) is a recently identified hereditary vascular disorder.
  • It is characterized by atypical capillary malformations and high-flow arteriovenous lesions.
  • Parkes Weber syndrome is a related condition involving vascular and tissue overgrowth.

Purpose of the Study:

  • To identify the genetic basis of CM-AVM.
  • To understand the role of RASA1 in vascular development.

Main Methods:

  • Classical genetic linkage analysis to identify the disease locus.
  • Candidate gene screening to pinpoint mutations.
  • In vivo (murine models) and in vitro (RNA interference) studies of RASA1 function.

Related Experiment Videos

Main Results:

  • Mutations in the RASA1 gene (encoding p120-RASGAP) were identified as the cause of CM-AVM.
  • RASA1 deficiency in murine models led to abnormal vascular development.
  • Lack of RASA1 function impaired cell motility, potentially via p190-RhoGAP, affecting angiogenic remodeling.

Conclusions:

  • RASA1 mutations are responsible for CM-AVM and related vascular anomalies.
  • RASA1 plays a critical role in regulating vascular development and angiogenic remodeling.
  • Targeting RASA1 signaling pathways may offer new therapeutic strategies for high-flow vascular anomalies.